A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv568234



Internal ID16008957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22732985..23117883hg38UCSC Ensembl
Innerchr15:22755185..23140114hg19UCSC Ensembl
Innerchr15:20306549..20691555hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38384899
hg19384930
hg18385007
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4320n54
Supporting Variantsnssv1148653, nssv1148652, nssv1148651, nssv1148650
SamplesHGDP00428, HGDP01103, HGDP01348, HGDP00701
Known GenesCYFIP1, LOC283683, NIPA1, NIPA2, TUBGCP5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv568234
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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